Varaico: Literature-Extracted Genetic Variants

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

NM_000250.2

p.L547L

c.1641C>T

Surrounding Variants

NM_000250.2

p.R548W

c.1642C>T

NM_000250.2

p.R548Q

c.1643G>A

NM_000250.2

p.I546V

c.1636A>G

NM_000250.2

p.P545delFs

c.1635delG

NM_000250.2

p.P545fs

c.1633_1634fs

NM_000250.2

p.D544del1

c.1630_1631delGTC

NM_000250.2

p.I543V

c.1627A>G

NM_000250.2

p.G541A

c.1622G>C

NM_000250.2

p.K556fs

c.1666_1667fs

NM_000250.2

p.R559C

c.1675C>T

NM_000250.2

p.V565V

c.1695G>T

NM_000250.2

p.R569W

c.1705C>T